Canonical Allele Identifier: CA10602842
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 280181
ClinVar RCV Id: RCV000336040
dbSNP Id: rs886041434
MyVariant Identifiers: chr2:g.238269819T>G (hg19) chr2:g.237361176T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237361176T>G , CM000664.2:g.237361176T>G GRCh38
NC_000002.11:g.238269819T>G , CM000664.1:g.238269819T>G GRCh37
NC_000002.10:g.237934558T>G NCBI36
NG_008676.1:g.58032A>C , LRG_473:g.58032A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5539-2A>C ENSP00000315873.4:n.5539-2A>C
ENST00000295550.9:c.6157-2A>C MANE Select ENSP00000295550.4:n.6157-2A>C
ENST00000295550.8:c.6157-2A>C ENSP00000295550.4:n.6157-2A>C
ENST00000347401.7:c.4336-2A>C ENSP00000315609.4:n.4336-2A>C
ENST00000353578.8:c.5539-2A>C ENSP00000315873.4:n.5539-2A>C
ENST00000409809.5:c.5539-2A>C ENSP00000386844.1:n.5539-2A>C
ENST00000472056.5:c.4336-2A>C ENSP00000418285.1:n.4336-2A>C
NM_004369.3:c.6157-2A>C , LRG_473t1:c.6157-2A>C NP_004360.2:n.6157-2A>C
NM_057166.4:c.4336-2A>C NP_476507.3:n.4336-2A>C
NM_057167.3:c.5539-2A>C NP_476508.2:n.5539-2A>C
XM_005246065.1:c.5557-2A>C XP_005246122.1:n.5557-2A>C
XM_005246066.1:c.4936-2A>C XP_005246123.1:n.4936-2A>C
XM_006712253.1:c.5656-2A>C XP_006712316.1:n.5656-2A>C
XM_011510574.1:c.6154-2A>C XP_011508876.1:n.6154-2A>C
XM_011510575.1:c.3751-2A>C XP_011508877.1:n.3751-2A>C
XM_017003304.1:c.3751-2A>C XP_016858793.1:n.3751-2A>C
XM_024452684.1:c.4936-2A>C XP_024308452.1:n.4936-2A>C
NM_004369.4:c.6157-2A>C MANE Select NP_004360.2:n.6157-2A>C
NM_057166.5:c.4336-2A>C NP_476507.3:n.4336-2A>C
NM_057167.4:c.5539-2A>C NP_476508.2:n.5539-2A>C
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